cool-seq-tool 0.7.1__tar.gz → 0.9.0__tar.gz

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  1. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/PKG-INFO +15 -15
  2. cool_seq_tool-0.9.0/README.md +59 -0
  3. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/docs/source/contributing.rst +1 -1
  4. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/docs/source/index.rst +4 -4
  5. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/docs/source/install.rst +1 -1
  6. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/docs/source/transcript_selection.rst +4 -3
  7. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/docs/source/usage.rst +1 -1
  8. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/pyproject.toml +2 -2
  9. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/src/cool_seq_tool/mappers/exon_genomic_coords.py +32 -15
  10. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/src/cool_seq_tool/sources/mane_transcript_mappings.py +3 -1
  11. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/src/cool_seq_tool.egg-info/PKG-INFO +15 -15
  12. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/src/cool_seq_tool.egg-info/SOURCES.txt +0 -1
  13. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/src/cool_seq_tool.egg-info/requires.txt +2 -2
  14. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/tests/conftest.py +15 -0
  15. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/tests/mappers/test_exon_genomic_coords.py +42 -10
  16. cool_seq_tool-0.7.1/.github/workflows/close_issue.yml +0 -18
  17. cool_seq_tool-0.7.1/README.md +0 -59
  18. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/.coveragerc +0 -0
  19. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/.github/ISSUE_TEMPLATE/bug-report.yaml +0 -0
  20. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/.github/ISSUE_TEMPLATE/feature-request.yaml +0 -0
  21. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/.github/workflows/checks.yaml +0 -0
  22. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/.github/workflows/pr-priority-label.yaml +0 -0
  23. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/.github/workflows/release.yml +0 -0
  24. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/.github/workflows/stale.yaml +0 -0
  25. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/.gitignore +0 -0
  26. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/.pre-commit-config.yaml +0 -0
  27. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/.readthedocs.yaml +0 -0
  28. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/CITATION.cff +0 -0
  29. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/LICENSE +0 -0
  30. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/docs/Makefile +0 -0
  31. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/docs/make.bat +0 -0
  32. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/docs/source/_static/img/biomart.png +0 -0
  33. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/docs/source/_templates/module_summary.rst +0 -0
  34. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/docs/source/changelog.rst +0 -0
  35. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/docs/source/conf.py +0 -0
  36. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/docs/source/license.rst +0 -0
  37. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/docs/source/reference/index.rst +0 -0
  38. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/setup.cfg +0 -0
  39. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/src/cool_seq_tool/__init__.py +0 -0
  40. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/src/cool_seq_tool/app.py +0 -0
  41. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/src/cool_seq_tool/handlers/__init__.py +0 -0
  42. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/src/cool_seq_tool/handlers/seqrepo_access.py +0 -0
  43. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/src/cool_seq_tool/mappers/__init__.py +0 -0
  44. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/src/cool_seq_tool/mappers/alignment.py +0 -0
  45. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/src/cool_seq_tool/mappers/liftover.py +0 -0
  46. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/src/cool_seq_tool/mappers/mane_transcript.py +0 -0
  47. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/src/cool_seq_tool/resources/__init__.py +0 -0
  48. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/src/cool_seq_tool/resources/data_files.py +0 -0
  49. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/src/cool_seq_tool/resources/status.py +0 -0
  50. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/src/cool_seq_tool/resources/transcript_mapping.tsv +0 -0
  51. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/src/cool_seq_tool/schemas.py +0 -0
  52. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/src/cool_seq_tool/sources/__init__.py +0 -0
  53. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/src/cool_seq_tool/sources/transcript_mappings.py +0 -0
  54. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/src/cool_seq_tool/sources/uta_database.py +0 -0
  55. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/src/cool_seq_tool/utils.py +0 -0
  56. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/src/cool_seq_tool.egg-info/dependency_links.txt +0 -0
  57. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/src/cool_seq_tool.egg-info/top_level.txt +0 -0
  58. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/tests/handlers/test_seqrepo_access.py +0 -0
  59. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/tests/mappers/test_alignment.py +0 -0
  60. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/tests/mappers/test_liftover.py +0 -0
  61. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/tests/mappers/test_mane_transcript.py +0 -0
  62. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/tests/sources/test_mane_transcript_mappings.py +0 -0
  63. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/tests/sources/test_uta_database.py +0 -0
  64. {cool_seq_tool-0.7.1 → cool_seq_tool-0.9.0}/tests/test_utils.py +0 -0
@@ -1,6 +1,6 @@
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  Metadata-Version: 2.1
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  Name: cool_seq_tool
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- Version: 0.7.1
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+ Version: 0.9.0
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  Summary: Common Operation on Lots of Sequences Tool
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  Author: Kori Kuzma, James Stevenson, Katie Stahl, Alex Wagner
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  License: MIT License
@@ -53,7 +53,7 @@ Requires-Dist: hgvs
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  Requires-Dist: biocommons.seqrepo
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  Requires-Dist: pydantic==2.*
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  Requires-Dist: ga4gh.vrs~=2.0.0a10
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- Requires-Dist: wags-tails~=0.1.3
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+ Requires-Dist: wags-tails~=0.2.2
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  Requires-Dist: bioutils
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  Provides-Extra: dev
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  Requires-Dist: pre-commit>=3.7.1; extra == "dev"
@@ -61,11 +61,11 @@ Requires-Dist: ipython; extra == "dev"
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  Requires-Dist: ipykernel; extra == "dev"
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  Requires-Dist: psycopg2-binary; extra == "dev"
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  Requires-Dist: ruff==0.5.0; extra == "dev"
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- Provides-Extra: test
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- Requires-Dist: pytest; extra == "test"
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- Requires-Dist: pytest-cov; extra == "test"
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- Requires-Dist: pytest-asyncio==0.18.3; extra == "test"
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- Requires-Dist: mock; extra == "test"
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+ Provides-Extra: tests
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+ Requires-Dist: pytest; extra == "tests"
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+ Requires-Dist: pytest-cov; extra == "tests"
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+ Requires-Dist: pytest-asyncio==0.18.3; extra == "tests"
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+ Requires-Dist: mock; extra == "tests"
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  Provides-Extra: docs
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  Requires-Dist: sphinx==6.1.3; extra == "docs"
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  Requires-Dist: sphinx-autodoc-typehints==1.22.0; extra == "docs"
@@ -76,10 +76,10 @@ Requires-Dist: furo==2023.3.27; extra == "docs"
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  Requires-Dist: sphinx-github-changelog==1.2.1; extra == "docs"
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78
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  <h1 align="center">
79
- CoolSeqTool
79
+ Cool-Seq-Tool
80
80
  </h1>
81
81
 
82
- [![image](https://img.shields.io/pypi/v/cool-seq-tool.svg)](https://pypi.python.org/pypi/cool-seq-tool) [![image](https://img.shields.io/pypi/l/cool-seq-tool.svg)](https://pypi.python.org/pypi/cool-seq-tool) [![image](https://img.shields.io/pypi/pyversions/cool-seq-tool.svg)](https://pypi.python.org/pypi/cool-seq-tool) [![Actions status](https://github.com/genomicmedlab/cool-seq-tool/actions/workflows/checks.yaml/badge.svg)](https://github.com/genomicmedlab/cool-seq-tool/actions/checks.yaml)
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+ [![image](https://img.shields.io/pypi/v/cool-seq-tool.svg)](https://pypi.python.org/pypi/cool-seq-tool) [![DOI](https://zenodo.org/badge/DOI/10.5281/zenodo.14007783.svg)](https://doi.org/10.5281/zenodo.14007783) [![image](https://img.shields.io/pypi/l/cool-seq-tool.svg)](https://pypi.python.org/pypi/cool-seq-tool) [![image](https://img.shields.io/pypi/pyversions/cool-seq-tool.svg)](https://pypi.python.org/pypi/cool-seq-tool) [![Actions status](https://github.com/genomicmedlab/cool-seq-tool/actions/workflows/checks.yaml/badge.svg)](https://github.com/genomicmedlab/cool-seq-tool/actions/checks.yaml)
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84
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  ---
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@@ -90,18 +90,18 @@ CoolSeqTool
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90
  ## Overview
91
91
 
92
92
  <!-- description -->
93
- The **CoolSeqTool** provides:
93
+ The Common Operations On Lots-Of Sequences Tool, **Cool-Seq-Tool**, provides:
94
94
 
95
- - A Pythonic API on top of sequence data of interest to tertiary analysis tools, including mappings between gene names and transcripts, [MANE transcript](https://www.ncbi.nlm.nih.gov/refseq/MANE/) descriptions, and the [Universal Transcript Archive](https://github.com/biocommons/uta)
96
- - Augmented access to the [SeqRepo](https://github.com/biocommons/biocommons.seqrepo) database, including multiple additional methods and tools
97
- - Mapping tools that combine the above to support translation between references sequences, annotation layers, and MANE transcripts
95
+ - A Pythonic API on top of sequence data of interest to tertiary analysis tools, including mappings between gene names and transcripts, [MANE transcript](https://www.ncbi.nlm.nih.gov/refseq/MANE/) descriptions, and transcript alignment data from the [Universal Transcript Archive](https://github.com/biocommons/uta)
96
+ - Augmented access to the [SeqRepo](https://github.com/biocommons/biocommons.seqrepo) database, including multiple additional methods and tools
97
+ - Mapping tools, including a transcript selection algorithm for selecting a representative transcript defined [here](https://coolseqtool.readthedocs.io/stable/transcript_selection.html), that combine the above to support translation between references sequences, annotation layers, and transcripts
98
98
  <!-- /description -->
99
99
 
100
100
  ---
101
101
 
102
102
  ## Install
103
103
 
104
- CoolSeqTool is available on [PyPI](https://pypi.org/project/cool-seq-tool)
104
+ Cool-Seq-Tool is available on [PyPI](https://pypi.org/project/cool-seq-tool)
105
105
 
106
106
  ```shell
107
107
  python3 -m pip install cool-seq-tool
@@ -113,7 +113,7 @@ See the [installation instructions](https://coolseqtool.readthedocs.io/stable/in
113
113
 
114
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  ## Usage
115
115
 
116
- All CoolSeqTool resources can be initialized by way of a top-level class instance:
116
+ All Cool-Seq-Tool resources can be initialized by way of a top-level class instance:
117
117
 
118
118
  ```pycon
119
119
  >>> from cool_seq_tool import CoolSeqTool
@@ -0,0 +1,59 @@
1
+ <h1 align="center">
2
+ Cool-Seq-Tool
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+ </h1>
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+
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+ [![image](https://img.shields.io/pypi/v/cool-seq-tool.svg)](https://pypi.python.org/pypi/cool-seq-tool) [![DOI](https://zenodo.org/badge/DOI/10.5281/zenodo.14007783.svg)](https://doi.org/10.5281/zenodo.14007783) [![image](https://img.shields.io/pypi/l/cool-seq-tool.svg)](https://pypi.python.org/pypi/cool-seq-tool) [![image](https://img.shields.io/pypi/pyversions/cool-seq-tool.svg)](https://pypi.python.org/pypi/cool-seq-tool) [![Actions status](https://github.com/genomicmedlab/cool-seq-tool/actions/workflows/checks.yaml/badge.svg)](https://github.com/genomicmedlab/cool-seq-tool/actions/checks.yaml)
6
+
7
+ ---
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+
9
+ **[Documentation](https://coolseqtool.readthedocs.io/stable/)** · [Installation](https://coolseqtool.readthedocs.io/stable/install.html) · [Usage](https://coolseqtool.readthedocs.io/stable/usage.html) · [API reference](https://coolseqtool.readthedocs.io/stable/reference/index.html)
10
+
11
+ ---
12
+
13
+ ## Overview
14
+
15
+ <!-- description -->
16
+ The Common Operations On Lots-Of Sequences Tool, **Cool-Seq-Tool**, provides:
17
+
18
+ - A Pythonic API on top of sequence data of interest to tertiary analysis tools, including mappings between gene names and transcripts, [MANE transcript](https://www.ncbi.nlm.nih.gov/refseq/MANE/) descriptions, and transcript alignment data from the [Universal Transcript Archive](https://github.com/biocommons/uta)
19
+ - Augmented access to the [SeqRepo](https://github.com/biocommons/biocommons.seqrepo) database, including multiple additional methods and tools
20
+ - Mapping tools, including a transcript selection algorithm for selecting a representative transcript defined [here](https://coolseqtool.readthedocs.io/stable/transcript_selection.html), that combine the above to support translation between references sequences, annotation layers, and transcripts
21
+ <!-- /description -->
22
+
23
+ ---
24
+
25
+ ## Install
26
+
27
+ Cool-Seq-Tool is available on [PyPI](https://pypi.org/project/cool-seq-tool)
28
+
29
+ ```shell
30
+ python3 -m pip install cool-seq-tool
31
+ ```
32
+
33
+ See the [installation instructions](https://coolseqtool.readthedocs.io/stable/install.html) in the documentation for a description of dependency setup requirements.
34
+
35
+ ---
36
+
37
+ ## Usage
38
+
39
+ All Cool-Seq-Tool resources can be initialized by way of a top-level class instance:
40
+
41
+ ```pycon
42
+ >>> from cool_seq_tool import CoolSeqTool
43
+ >>> from cool_seq_tool.schemas import AnnotationLayer, CoordinateType
44
+ >>> cst = CoolSeqTool()
45
+ >>> result = await cst.mane_transcript.get_mane_transcript(
46
+ ... "NP_004324.2",
47
+ ... 599,
48
+ ... AnnotationLayer.PROTEIN,
49
+ ... coordinate_type=CoordinateType.INTER_RESIDUE,
50
+ ... )
51
+ >>> result.gene, result.refseq, result.status
52
+ ('EGFR', 'NM_005228.5', <TranscriptPriority.MANE_SELECT: 'mane_select'>)
53
+ ```
54
+
55
+ ---
56
+
57
+ ## Feedback and contributing
58
+
59
+ We welcome bug reports, feature requests, and code contributions from users and interested collaborators. The [documentation](https://coolseqtool.readthedocs.io/stable/contributing.html) contains guidance for submitting feedback and contributing new code.
@@ -17,7 +17,7 @@ Create a virtual environment and install :ref:`all dependency groups<dependency-
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17
 
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  python3 -m venv venv
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  source venv/bin/activate
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- python3 -m pip install -e ".[dev,test,docs]"
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+ python3 -m pip install -e ".[dev,tests,docs]"
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21
 
22
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  We use `pre-commit <https://pre-commit.com/#usage>`_ to run conformance tests before commits. This provides checks for:
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@@ -16,15 +16,15 @@ Cool-Seq-Tool |version|
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16
  :alt: tests status
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17
  :target: https://github.com/genomicmedlab/cool-seq-tool/actions/workflows/checks.yaml
18
18
 
19
- The **CoolSeqTool** provides:
19
+ The Common Operations On Lots-Of Sequences Tool, **Cool-Seq-Tool**, provides:
20
20
 
21
- * A Pythonic API on top of sequence data of interest to tertiary analysis tools, including mappings between gene names and transcripts, `MANE transcript <https://www.ncbi.nlm.nih.gov/refseq/MANE/>`_ descriptions, and the `Universal Transcript Archive <https://github.com/biocommons/uta>`_
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+ * A Pythonic API on top of sequence data of interest to tertiary analysis tools, including mappings between gene names and transcripts, `MANE transcript <https://www.ncbi.nlm.nih.gov/refseq/MANE/>`_ descriptions, and transcript alignment data from the `Universal Transcript Archive <https://github.com/biocommons/uta>`_
22
22
  * Augmented access to the `SeqRepo <https://github.com/biocommons/biocommons.seqrepo>`_ database, including multiple additional methods and tools
23
- * Mapping tools that combine the above to support translation between various references sequences and annotation layers, and to MANE-designated transcripts
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+ * Mapping tools, including a transcript selection algorithm for selecting a representative transcript defined :ref:`here <transcript_selection_policy>`, that combine the above to support translation between various references sequences and annotation layers, and transcripts
24
24
 
25
25
  See the :ref:`Installation <installation>` and :ref:`Usage <usage>` pages for information on getting started. Individual classes and methods are documented within the :ref:`API reference <api_reference>`.
26
26
 
27
- CoolSeqTool was created to support the `Knowledgebase Integration Project <https://cancervariants.org/projects/integration/>`_ of the `Variant Interpretation for Cancer Consortium (VICC) <https://cancervariants.org/>`_. It is developed primarily by the `Wagner Lab <https://www.nationwidechildrens.org/specialties/institute-for-genomic-medicine/research-labs/wagner-lab>`_. Full source code is available on `GitHub <https://github.com/genomicmedlab/cool-seq-tool>`_.
27
+ Cool-Seq-Tool was created to support the `Knowledgebase Integration Project <https://cancervariants.org/projects/integration/>`_ of the `Variant Interpretation for Cancer Consortium (VICC) <https://cancervariants.org/>`_. It is developed primarily by the `Wagner Lab <https://www.nationwidechildrens.org/specialties/institute-for-genomic-medicine/research-labs/wagner-lab>`_. Full source code is available on `GitHub <https://github.com/genomicmedlab/cool-seq-tool>`_.
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29
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  .. toctree::
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  :hidden:
@@ -24,7 +24,7 @@ Install Cool-Seq-Tool from `PyPI <https://pypi.org/project/cool-seq-tool/>`_:
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  Cool-Seq-Tool provides extra dependency groups for development and testing purposes. Most users won't need to install them.
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25
 
26
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  * ``dev`` includes packages for linting and performing other kinds of quality checks
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- * ``test`` includes packages for running tests
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+ * ``tests`` includes packages for running tests
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  * ``docs`` includes packages for writing and building documentation
29
29
 
30
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  Set up UTA
@@ -28,8 +28,9 @@ All compatible transcripts are evaluated and ordered against the below criteria.
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28
  #. Transcript is annotated as a `MANE Select` transcript
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  #. Transcript is annotated as a `MANE Plus Clinical` transcript
30
30
  #. Transcript is the longest-compatible remaining transcript
31
- #. Transcript is the first-published (lowest-numbered RefSeq/Ensembl accession) remaining transcript
32
31
 
33
- .. note::
32
+ #. If there is a tie, choose the first-published (lowest-numbered RefSeq/Ensembl accession) transcript
34
33
 
35
- We always prefer the most recent version of a transcript associated with an assembly.
34
+ .. note::
35
+
36
+ We always prefer the most recent version of a transcript associated with an assembly.
@@ -30,7 +30,7 @@ Descriptions and examples of functions can be found in the :ref:`API Reference <
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31
31
  .. note::
32
32
 
33
- Many component classes in CoolSeqTool, including :py:class:`UtaDatabase <cool_seq_tool.sources.uta_database.UtaDatabase>`, :py:class:`ExonGenomicCoordsMapper <cool_seq_tool.mappers.exon_genomic_coords.ExonGenomicCoordsMapper>`, and :py:class:`ManeTranscript <cool_seq_tool.mappers.mane_transcript>`, define public methods as ``async``. This means that, when used inside another function, they must be called with ``await``:
33
+ Many component classes in Cool-Seq-Tool, including :py:class:`UtaDatabase <cool_seq_tool.sources.uta_database.UtaDatabase>`, :py:class:`ExonGenomicCoordsMapper <cool_seq_tool.mappers.exon_genomic_coords.ExonGenomicCoordsMapper>`, and :py:class:`ManeTranscript <cool_seq_tool.mappers.mane_transcript>`, define public methods as ``async``. This means that, when used inside another function, they must be called with ``await``:
34
34
 
35
35
  .. code-block:: python
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36
 
@@ -33,14 +33,14 @@ dependencies = [
33
33
  "biocommons.seqrepo",
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34
  "pydantic == 2.*",
35
35
  "ga4gh.vrs ~= 2.0.0a10",
36
- "wags-tails ~= 0.1.3",
36
+ "wags-tails ~= 0.2.2",
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37
  "bioutils",
38
38
  ]
39
39
  dynamic = ["version"]
40
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41
41
  [project.optional-dependencies]
42
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  dev = ["pre-commit>=3.7.1", "ipython", "ipykernel", "psycopg2-binary", "ruff==0.5.0"]
43
- test = ["pytest", "pytest-cov", "pytest-asyncio==0.18.3", "mock"]
43
+ tests = ["pytest", "pytest-cov", "pytest-asyncio==0.18.3", "mock"]
44
44
  docs = [
45
45
  "sphinx==6.1.3",
46
46
  "sphinx-autodoc-typehints==1.22.0",
@@ -87,7 +87,9 @@ class GenomicTxSeg(BaseModelForbidExtra):
87
87
  """Model for representing a boundary for a transcript segment."""
88
88
 
89
89
  seg: TxSegment | None = Field(None, description="Transcript segment.")
90
- gene: StrictStr | None = Field(None, description="HGNC gene symbol.")
90
+ gene: StrictStr | None = Field(
91
+ None, description="Valid, case-sensitive HGNC gene symbol."
92
+ )
91
93
  genomic_ac: StrictStr | None = Field(None, description="RefSeq genomic accession.")
92
94
  tx_ac: StrictStr | None = Field(None, description="RefSeq transcript accession.")
93
95
  errors: list[StrictStr] = Field([], description="Error messages.")
@@ -139,7 +141,9 @@ class GenomicTxSeg(BaseModelForbidExtra):
139
141
  class GenomicTxSegService(BaseModelForbidExtra):
140
142
  """Service model for genomic and transcript data."""
141
143
 
142
- gene: StrictStr | None = Field(None, description="HGNC gene symbol.")
144
+ gene: StrictStr | None = Field(
145
+ None, description="Valid, case-sensitive HGNC gene symbol."
146
+ )
143
147
  genomic_ac: StrictStr | None = Field(None, description="RefSeq genomic accession.")
144
148
  tx_ac: StrictStr | None = Field(None, description="RefSeq transcript accession.")
145
149
  seg_start: TxSegment | None = Field(None, description="Start transcript segment.")
@@ -292,7 +296,7 @@ class ExonGenomicCoordsMapper:
292
296
  ('NC_000001.11', 154192135, 154170399)
293
297
 
294
298
  :param transcript: RefSeq transcript accession
295
- :param gene: HGNC gene symbol
299
+ :param gene: Valid, case-sensitive HGNC gene symbol
296
300
  :param exon_start: Starting transcript exon number (1-based). If not provided,
297
301
  must provide ``exon_end``
298
302
  :param exon_start_offset: Starting exon offset
@@ -335,9 +339,6 @@ class ExonGenomicCoordsMapper:
335
339
  if errors:
336
340
  return _return_service_errors(errors)
337
341
 
338
- if gene:
339
- gene = gene.upper()
340
-
341
342
  # Get aligned genomic data (hgnc gene, alt_ac, alt_start_i, alt_end_i, strand)
342
343
  # for exon(s)
343
344
  (
@@ -455,7 +456,7 @@ class ExonGenomicCoordsMapper:
455
456
  following the breakpoint for the 3' end. For the negative strand, adjacent
456
457
  is defined as the exon following the breakpoint for the 5' end and the exon
457
458
  preceding the breakpoint for the 3' end.
458
- :param gene: gene name. Ideally, HGNC symbol. Must be given if no ``transcript``
459
+ :param gene: A valid, case-sensitive HGNC symbol. Must be given if no ``transcript``
459
460
  value is provided.
460
461
  :param coordinate_type: Coordinate type for ``seg_start_genomic`` and
461
462
  ``seg_end_genomic``
@@ -473,9 +474,6 @@ class ExonGenomicCoordsMapper:
473
474
  if errors:
474
475
  return _return_service_errors(errors)
475
476
 
476
- if gene is not None:
477
- gene = gene.upper()
478
-
479
477
  params = {}
480
478
 
481
479
  if seg_start_genomic:
@@ -630,7 +628,7 @@ class ExonGenomicCoordsMapper:
630
628
  must provide ``tx_exon_end``
631
629
  :param tx_exon_end: Transcript's exon end coordinates. If not provided, must
632
630
  provide ``tx_exon_start``
633
- :param gene: HGNC gene symbol
631
+ :param gene: A valid, case-sensitive HGNC gene symbol
634
632
  :return: Tuple containing aligned genomic data for start and end exon and
635
633
  warnings if found
636
634
  """
@@ -755,7 +753,7 @@ class ExonGenomicCoordsMapper:
755
753
  :param transcript: The transcript to use. If this is not given, we will try the
756
754
  following transcripts: MANE Select, MANE Clinical Plus, Longest Remaining
757
755
  Compatible Transcript
758
- :param gene: HGNC gene symbol
756
+ :param gene: Valid, case-sensitive HGNC gene symbol
759
757
  :param get_nearest_transcript_junction: If ``True``, this will return the
760
758
  adjacent exon if the position specified by``seg_start_genomic`` or
761
759
  ``seg_end_genomic`` does not occur on an exon. For the positive strand, adjacent
@@ -1062,7 +1060,7 @@ class ExonGenomicCoordsMapper:
1062
1060
  :param genomic_ac: Genomic RefSeq accession
1063
1061
  :param genomic_pos: Genomic position where the transcript segment occurs
1064
1062
  :param is_seg_start: Whether or not ``genomic_pos`` represents the start position.
1065
- :param gene: HGNC gene symbol
1063
+ :param gene: Valid, case-sensitive HGNC gene symbol
1066
1064
  :param tx_ac: Transcript RefSeq accession. If not provided, will use MANE
1067
1065
  transcript
1068
1066
  :return: Transcript segment data and associated genomic metadata
@@ -1171,14 +1169,32 @@ class ExonGenomicCoordsMapper:
1171
1169
  :param end: Genomic coordinate of breakpoint
1172
1170
  :return: Exon number corresponding to adjacent exon. Will be 0-based
1173
1171
  """
1174
- for i in range(len(tx_exons_genomic_coords) - 1):
1172
+ # If a transcript has only one exon, return 0
1173
+ if len(tx_exons_genomic_coords) == 1:
1174
+ return 0
1175
+
1176
+ # Check if a breakpoint occurs before/after the transcript boundaries
1177
+ bp = start if start else end
1178
+ exon_list_len = len(tx_exons_genomic_coords) - 1
1179
+
1180
+ if strand == Strand.POSITIVE:
1181
+ if bp < tx_exons_genomic_coords[0].alt_start_i:
1182
+ return 0
1183
+ if bp > tx_exons_genomic_coords[exon_list_len].alt_end_i:
1184
+ return exon_list_len
1185
+ if strand == Strand.NEGATIVE:
1186
+ if bp > tx_exons_genomic_coords[0].alt_end_i:
1187
+ return 0
1188
+ if bp < tx_exons_genomic_coords[exon_list_len].alt_start_i:
1189
+ return exon_list_len
1190
+
1191
+ for i in range(exon_list_len):
1175
1192
  exon = tx_exons_genomic_coords[i]
1176
1193
  if start == exon.alt_start_i:
1177
1194
  break
1178
1195
  if end == exon.alt_end_i:
1179
1196
  break
1180
1197
  next_exon = tx_exons_genomic_coords[i + 1]
1181
- bp = start if start else end
1182
1198
  if strand == Strand.POSITIVE:
1183
1199
  lte_exon = exon
1184
1200
  gte_exon = next_exon
@@ -1187,6 +1203,7 @@ class ExonGenomicCoordsMapper:
1187
1203
  gte_exon = exon
1188
1204
  if bp >= lte_exon.alt_end_i and bp <= gte_exon.alt_start_i:
1189
1205
  break
1206
+
1190
1207
  # Return current exon if end position is provided, next exon if start position
1191
1208
  # is provided.
1192
1209
  return exon.ord if end else exon.ord + 1
@@ -61,7 +61,9 @@ class ManeTranscriptMappings:
61
61
  location information). The list is sorted so that a MANE Select entry comes
62
62
  first, followed by a MANE Plus Clinical entry, if available.
63
63
  """
64
- data = self.df.filter(pl.col("symbol") == gene_symbol.upper())
64
+ data = self.df.filter(
65
+ pl.col("symbol").str.to_uppercase() == gene_symbol.upper()
66
+ )
65
67
 
66
68
  if len(data) == 0:
67
69
  _logger.warning(
@@ -1,6 +1,6 @@
1
1
  Metadata-Version: 2.1
2
2
  Name: cool_seq_tool
3
- Version: 0.7.1
3
+ Version: 0.9.0
4
4
  Summary: Common Operation on Lots of Sequences Tool
5
5
  Author: Kori Kuzma, James Stevenson, Katie Stahl, Alex Wagner
6
6
  License: MIT License
@@ -53,7 +53,7 @@ Requires-Dist: hgvs
53
53
  Requires-Dist: biocommons.seqrepo
54
54
  Requires-Dist: pydantic==2.*
55
55
  Requires-Dist: ga4gh.vrs~=2.0.0a10
56
- Requires-Dist: wags-tails~=0.1.3
56
+ Requires-Dist: wags-tails~=0.2.2
57
57
  Requires-Dist: bioutils
58
58
  Provides-Extra: dev
59
59
  Requires-Dist: pre-commit>=3.7.1; extra == "dev"
@@ -61,11 +61,11 @@ Requires-Dist: ipython; extra == "dev"
61
61
  Requires-Dist: ipykernel; extra == "dev"
62
62
  Requires-Dist: psycopg2-binary; extra == "dev"
63
63
  Requires-Dist: ruff==0.5.0; extra == "dev"
64
- Provides-Extra: test
65
- Requires-Dist: pytest; extra == "test"
66
- Requires-Dist: pytest-cov; extra == "test"
67
- Requires-Dist: pytest-asyncio==0.18.3; extra == "test"
68
- Requires-Dist: mock; extra == "test"
64
+ Provides-Extra: tests
65
+ Requires-Dist: pytest; extra == "tests"
66
+ Requires-Dist: pytest-cov; extra == "tests"
67
+ Requires-Dist: pytest-asyncio==0.18.3; extra == "tests"
68
+ Requires-Dist: mock; extra == "tests"
69
69
  Provides-Extra: docs
70
70
  Requires-Dist: sphinx==6.1.3; extra == "docs"
71
71
  Requires-Dist: sphinx-autodoc-typehints==1.22.0; extra == "docs"
@@ -76,10 +76,10 @@ Requires-Dist: furo==2023.3.27; extra == "docs"
76
76
  Requires-Dist: sphinx-github-changelog==1.2.1; extra == "docs"
77
77
 
78
78
  <h1 align="center">
79
- CoolSeqTool
79
+ Cool-Seq-Tool
80
80
  </h1>
81
81
 
82
- [![image](https://img.shields.io/pypi/v/cool-seq-tool.svg)](https://pypi.python.org/pypi/cool-seq-tool) [![image](https://img.shields.io/pypi/l/cool-seq-tool.svg)](https://pypi.python.org/pypi/cool-seq-tool) [![image](https://img.shields.io/pypi/pyversions/cool-seq-tool.svg)](https://pypi.python.org/pypi/cool-seq-tool) [![Actions status](https://github.com/genomicmedlab/cool-seq-tool/actions/workflows/checks.yaml/badge.svg)](https://github.com/genomicmedlab/cool-seq-tool/actions/checks.yaml)
82
+ [![image](https://img.shields.io/pypi/v/cool-seq-tool.svg)](https://pypi.python.org/pypi/cool-seq-tool) [![DOI](https://zenodo.org/badge/DOI/10.5281/zenodo.14007783.svg)](https://doi.org/10.5281/zenodo.14007783) [![image](https://img.shields.io/pypi/l/cool-seq-tool.svg)](https://pypi.python.org/pypi/cool-seq-tool) [![image](https://img.shields.io/pypi/pyversions/cool-seq-tool.svg)](https://pypi.python.org/pypi/cool-seq-tool) [![Actions status](https://github.com/genomicmedlab/cool-seq-tool/actions/workflows/checks.yaml/badge.svg)](https://github.com/genomicmedlab/cool-seq-tool/actions/checks.yaml)
83
83
 
84
84
  ---
85
85
 
@@ -90,18 +90,18 @@ CoolSeqTool
90
90
  ## Overview
91
91
 
92
92
  <!-- description -->
93
- The **CoolSeqTool** provides:
93
+ The Common Operations On Lots-Of Sequences Tool, **Cool-Seq-Tool**, provides:
94
94
 
95
- - A Pythonic API on top of sequence data of interest to tertiary analysis tools, including mappings between gene names and transcripts, [MANE transcript](https://www.ncbi.nlm.nih.gov/refseq/MANE/) descriptions, and the [Universal Transcript Archive](https://github.com/biocommons/uta)
96
- - Augmented access to the [SeqRepo](https://github.com/biocommons/biocommons.seqrepo) database, including multiple additional methods and tools
97
- - Mapping tools that combine the above to support translation between references sequences, annotation layers, and MANE transcripts
95
+ - A Pythonic API on top of sequence data of interest to tertiary analysis tools, including mappings between gene names and transcripts, [MANE transcript](https://www.ncbi.nlm.nih.gov/refseq/MANE/) descriptions, and transcript alignment data from the [Universal Transcript Archive](https://github.com/biocommons/uta)
96
+ - Augmented access to the [SeqRepo](https://github.com/biocommons/biocommons.seqrepo) database, including multiple additional methods and tools
97
+ - Mapping tools, including a transcript selection algorithm for selecting a representative transcript defined [here](https://coolseqtool.readthedocs.io/stable/transcript_selection.html), that combine the above to support translation between references sequences, annotation layers, and transcripts
98
98
  <!-- /description -->
99
99
 
100
100
  ---
101
101
 
102
102
  ## Install
103
103
 
104
- CoolSeqTool is available on [PyPI](https://pypi.org/project/cool-seq-tool)
104
+ Cool-Seq-Tool is available on [PyPI](https://pypi.org/project/cool-seq-tool)
105
105
 
106
106
  ```shell
107
107
  python3 -m pip install cool-seq-tool
@@ -113,7 +113,7 @@ See the [installation instructions](https://coolseqtool.readthedocs.io/stable/in
113
113
 
114
114
  ## Usage
115
115
 
116
- All CoolSeqTool resources can be initialized by way of a top-level class instance:
116
+ All Cool-Seq-Tool resources can be initialized by way of a top-level class instance:
117
117
 
118
118
  ```pycon
119
119
  >>> from cool_seq_tool import CoolSeqTool
@@ -9,7 +9,6 @@ pyproject.toml
9
9
  .github/ISSUE_TEMPLATE/bug-report.yaml
10
10
  .github/ISSUE_TEMPLATE/feature-request.yaml
11
11
  .github/workflows/checks.yaml
12
- .github/workflows/close_issue.yml
13
12
  .github/workflows/pr-priority-label.yaml
14
13
  .github/workflows/release.yml
15
14
  .github/workflows/stale.yaml
@@ -7,7 +7,7 @@ hgvs
7
7
  biocommons.seqrepo
8
8
  pydantic==2.*
9
9
  ga4gh.vrs~=2.0.0a10
10
- wags-tails~=0.1.3
10
+ wags-tails~=0.2.2
11
11
  bioutils
12
12
 
13
13
  [dev]
@@ -26,7 +26,7 @@ sphinxext-opengraph==0.8.2
26
26
  furo==2023.3.27
27
27
  sphinx-github-changelog==1.2.1
28
28
 
29
- [test]
29
+ [tests]
30
30
  pytest
31
31
  pytest-cov
32
32
  pytest-asyncio==0.18.3
@@ -277,6 +277,21 @@ def nm_001105539_exons_genomic_coords():
277
277
  ]
278
278
 
279
279
 
280
+ @pytest.fixture(scope="session")
281
+ def mm_001005183_1_exons():
282
+ """Create test fixture for NM_001005183.1 exons and genomic coordinates"""
283
+ return [
284
+ _ExonCoord(
285
+ ord=0,
286
+ tx_start_i=0,
287
+ tx_end_i=939,
288
+ alt_start_i=55426253,
289
+ alt_end_i=55427192,
290
+ alt_strand=Strand.POSITIVE,
291
+ )
292
+ ]
293
+
294
+
280
295
  @pytest.fixture(scope="session")
281
296
  def tpm3_1_8_start_genomic():
282
297
  """Create test fixture for genomic data for exon 1, 8"""
@@ -806,7 +806,10 @@ async def test_get_start_end_exon_coords(test_egc_mapper):
806
806
 
807
807
  @pytest.mark.asyncio()
808
808
  async def test_get_adjacent_exon(
809
- test_egc_mapper, nm_152263_exons_genomic_coords, nm_001105539_exons_genomic_coords
809
+ test_egc_mapper,
810
+ nm_152263_exons_genomic_coords,
811
+ nm_001105539_exons_genomic_coords,
812
+ mm_001005183_1_exons,
810
813
  ):
811
814
  """Test that get_adjacent_exon works properly"""
812
815
  resp = test_egc_mapper._get_adjacent_exon(
@@ -840,6 +843,41 @@ async def test_get_adjacent_exon(
840
843
  )
841
844
  assert resp == 4
842
845
 
846
+ # Check cases where breakpoint occurs in before/after transcript boundaries
847
+ resp = test_egc_mapper._get_adjacent_exon(
848
+ tx_exons_genomic_coords=nm_001105539_exons_genomic_coords,
849
+ start=80486220,
850
+ strand=Strand.POSITIVE,
851
+ )
852
+ assert resp == 0
853
+ resp = test_egc_mapper._get_adjacent_exon(
854
+ tx_exons_genomic_coords=nm_001105539_exons_genomic_coords,
855
+ start=80526285,
856
+ strand=Strand.POSITIVE,
857
+ )
858
+ assert resp == 5
859
+ resp = test_egc_mapper._get_adjacent_exon(
860
+ tx_exons_genomic_coords=nm_152263_exons_genomic_coords,
861
+ end=154192110,
862
+ strand=Strand.NEGATIVE,
863
+ )
864
+ assert resp == 0
865
+ resp = test_egc_mapper._get_adjacent_exon(
866
+ tx_exons_genomic_coords=nm_152263_exons_genomic_coords,
867
+ end=154161809,
868
+ strand=Strand.NEGATIVE,
869
+ )
870
+ assert resp == 9
871
+
872
+ # Check cases where transcript only has one exon and breakpoint does not occur
873
+ # exon
874
+ resp = test_egc_mapper._get_adjacent_exon(
875
+ tx_exons_genomic_coords=mm_001005183_1_exons,
876
+ start=55411058,
877
+ strand=Strand.POSITIVE,
878
+ )
879
+ assert resp == 0
880
+
843
881
 
844
882
  def test_is_exonic_breakpoint(test_egc_mapper, nm_001105539_exons_genomic_coords):
845
883
  """Test is breakpoint occurs on exon"""
@@ -1162,7 +1200,7 @@ async def test_wee1(test_egc_mapper, wee1_exon2_exon11, mane_wee1_exon2_exon11):
1162
1200
  "seg_start_genomic": 9597639,
1163
1201
  "seg_end_genomic": 9609996,
1164
1202
  "transcript": "NM_003390.3",
1165
- "gene": "wee1",
1203
+ "gene": "WEE1",
1166
1204
  }
1167
1205
  g_to_t_resp = await test_egc_mapper.genomic_to_tx_segment(**inputs)
1168
1206
  genomic_tx_seg_service_checks(g_to_t_resp, wee1_exon2_exon11)
@@ -1177,7 +1215,7 @@ async def test_wee1(test_egc_mapper, wee1_exon2_exon11, mane_wee1_exon2_exon11):
1177
1215
  "genomic_ac": "NC_000011.9",
1178
1216
  "seg_start_genomic": 9597639, # GRCh38 coords: 9576092
1179
1217
  "seg_end_genomic": 9609996, # GRCh38 coords: 9588449
1180
- "gene": "wee1",
1218
+ "gene": "WEE1",
1181
1219
  }
1182
1220
  g_to_t_resp = await test_egc_mapper.genomic_to_tx_segment(**inputs)
1183
1221
  genomic_tx_seg_service_checks(g_to_t_resp, mane_wee1_exon2_exon11)
@@ -1216,12 +1254,6 @@ async def test_transcript_to_genomic(
1216
1254
  expected.seg_end.genomic_location.start = 154170399
1217
1255
  genomic_tx_seg_service_checks(resp, expected)
1218
1256
 
1219
- resp = await test_egc_mapper.tx_segment_to_genomic(
1220
- exon_start=None, exon_end=8, gene="tpm3", transcript="NM_152263.3"
1221
- )
1222
- expected.seg_end.genomic_location.start = 154170399
1223
- genomic_tx_seg_service_checks(resp, expected)
1224
-
1225
1257
  expected = tpm3_exon1_exon8.model_copy(deep=True)
1226
1258
  resp = await test_egc_mapper.tx_segment_to_genomic(
1227
1259
  exon_start=1, exon_end=8, exon_end_offset=-5, transcript="NM_152263.3"
@@ -1371,7 +1403,7 @@ async def test_invalid(test_egc_mapper):
1371
1403
  gene="dummy gene",
1372
1404
  )
1373
1405
  genomic_tx_seg_service_checks(resp, is_valid=False)
1374
- assert resp.errors == ["Expected gene, DUMMY GENE, but found TPM3"]
1406
+ assert resp.errors == ["Expected gene, dummy gene, but found TPM3"]
1375
1407
 
1376
1408
  # Invalid accession
1377
1409
  resp = await test_egc_mapper.genomic_to_tx_segment(
@@ -1,18 +0,0 @@
1
- name: Close issues related to a merged pull request based on staging branch.
2
-
3
- on:
4
- pull_request:
5
- types: [closed]
6
- branches:
7
- - staging
8
-
9
- jobs:
10
- closeIssueOnPrMergeTrigger:
11
-
12
- runs-on: ubuntu-latest
13
-
14
- steps:
15
- - name: Closes issues related to a merged pull request.
16
- uses: ldez/gha-mjolnir@v1.0.3
17
- env:
18
- GITHUB_TOKEN: ${{ secrets.GITHUB_TOKEN }}
@@ -1,59 +0,0 @@
1
- <h1 align="center">
2
- CoolSeqTool
3
- </h1>
4
-
5
- [![image](https://img.shields.io/pypi/v/cool-seq-tool.svg)](https://pypi.python.org/pypi/cool-seq-tool) [![image](https://img.shields.io/pypi/l/cool-seq-tool.svg)](https://pypi.python.org/pypi/cool-seq-tool) [![image](https://img.shields.io/pypi/pyversions/cool-seq-tool.svg)](https://pypi.python.org/pypi/cool-seq-tool) [![Actions status](https://github.com/genomicmedlab/cool-seq-tool/actions/workflows/checks.yaml/badge.svg)](https://github.com/genomicmedlab/cool-seq-tool/actions/checks.yaml)
6
-
7
- ---
8
-
9
- **[Documentation](https://coolseqtool.readthedocs.io/stable/)** · [Installation](https://coolseqtool.readthedocs.io/stable/install.html) · [Usage](https://coolseqtool.readthedocs.io/stable/usage.html) · [API reference](https://coolseqtool.readthedocs.io/stable/reference/index.html)
10
-
11
- ---
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-
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- ## Overview
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-
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- <!-- description -->
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- The **CoolSeqTool** provides:
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-
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- - A Pythonic API on top of sequence data of interest to tertiary analysis tools, including mappings between gene names and transcripts, [MANE transcript](https://www.ncbi.nlm.nih.gov/refseq/MANE/) descriptions, and the [Universal Transcript Archive](https://github.com/biocommons/uta)
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- - Augmented access to the [SeqRepo](https://github.com/biocommons/biocommons.seqrepo) database, including multiple additional methods and tools
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- - Mapping tools that combine the above to support translation between references sequences, annotation layers, and MANE transcripts
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- <!-- /description -->
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-
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- ---
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-
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- ## Install
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-
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- CoolSeqTool is available on [PyPI](https://pypi.org/project/cool-seq-tool)
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-
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- ```shell
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- python3 -m pip install cool-seq-tool
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- ```
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-
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- See the [installation instructions](https://coolseqtool.readthedocs.io/stable/install.html) in the documentation for a description of dependency setup requirements.
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-
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- ---
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-
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- ## Usage
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-
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- All CoolSeqTool resources can be initialized by way of a top-level class instance:
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-
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- ```pycon
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- >>> from cool_seq_tool import CoolSeqTool
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- >>> from cool_seq_tool.schemas import AnnotationLayer, CoordinateType
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- >>> cst = CoolSeqTool()
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- >>> result = await cst.mane_transcript.get_mane_transcript(
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- ... "NP_004324.2",
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- ... 599,
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- ... AnnotationLayer.PROTEIN,
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- ... coordinate_type=CoordinateType.INTER_RESIDUE,
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- ... )
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- >>> result.gene, result.refseq, result.status
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- ('EGFR', 'NM_005228.5', <TranscriptPriority.MANE_SELECT: 'mane_select'>)
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- ```
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-
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- ---
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-
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- ## Feedback and contributing
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-
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- We welcome bug reports, feature requests, and code contributions from users and interested collaborators. The [documentation](https://coolseqtool.readthedocs.io/stable/contributing.html) contains guidance for submitting feedback and contributing new code.
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